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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 COXPD10 (MTO1)
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS
614702
OMIM = Online Medalian Inheritance of Men
314637
6q13
rare (1:5000)
autosomal recessive
mutation in the MTO1 gene
symptoms
ataxia
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, hypertrophic
cognitive impairment
developmental delay
dystonia
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hepatomegaly (large liver)
hypoglycemia
hypotonia
lactic acidosis
liver involvement or dysfunction
metabolic acidosis
myopathy
onset, childhood
onset, infancy
onset, neonatal
ophthalmoplegia
optic atrophy
ptosis (drooping eyelid)
seizures
small for gestational age (SGA), intrauterine growth retardation (IUGR)
speech development, delayed, abnormal
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
L-Lactic acid3.00 mmol/lplasma
Alanine +€mol/lplasma
D-Glucose mmol/lplasma
L-Lactic acid mmol/lcerebrospinal fluid
MRI, brain, abnormalities -
Literature
Wens SC,et al.Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe DiseaseCirc Cardiovasc Genet916-132016
Llerena Junior JC,et al.Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe diseaseArq Neuropsiquiatr742166-1762016
Chan J,et al.The emerging phenotype of late-onset Pompe disease: A systematic literature reviewMol Genet Metab1203163-1722017
Bekircan-Kurt CE,et al.New mutations and genotype-phenotype correlation in late-onset Pompe patientsActa Neurol Belg1171269-2752017
Dasouki M,et al.Pompe disease: literature review and case seriesNeurol Clin323751-7762014
Fernandez-Vizarra E,Zeviani MNuclear gene mutations as the cause of mitochondrial complex III deficiencyFront Genet601342015
Boentert M,et al.Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe DiseaseInt J Mol Sci1710e17352016